Canonical Allele Identifier: CA388400248

Gene: ABCC4

Linked Data

• MyVariant Identifiers: chr13:g.95822834A>C (hg19) ; chr13:g.95170580A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95170580A>C , CM000675.2:g.95170580A>C	GRCh38
NC_000013.10:g.95822834A>C , CM000675.1:g.95822834A>C	GRCh37
NC_000013.9:g.94620835A>C	NCBI36
NG_050651.1:g.135867T>G
NG_050651.2:g.135867T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642524.1:c.*1809T>G	ENSP00000493766.1:n.*1809T>G
ENST00000643051.1:c.1776T>G	ENSP00000495513.1:p.His592Gln
ENST00000643556.1:c.1917T>G	ENSP00000494938.1:n.1917T>G
ENST00000643816.1:n.2059T>G
ENST00000643842.1:c.*1822T>G	ENSP00000493861.1:n.*1822T>G
ENST00000644471.1:n.1867T>G
ENST00000645237.2:c.1776T>G MANE Select	ENSP00000494609.1:p.His592Gln
ENST00000645532.1:c.1815T>G	ENSP00000494431.1:p.His605Gln
ENST00000646439.1:c.1776T>G	ENSP00000494751.1:p.His592Gln
ENST00000376887.8:c.1776T>G	ENSP00000366084.4:p.His592Gln
ENST00000536256.3:c.1551T>G	ENSP00000442024.1:p.His517Gln
ENST00000629385.1:c.1776T>G	ENSP00000487081.1:p.His592Gln
NM_001105515.2:c.1776T>G	NP_001098985.1:p.His592Gln
NM_001301829.1:c.1776T>G	NP_001288758.1:p.His592Gln
NM_001301830.1:c.1551T>G	NP_001288759.1:p.His517Gln
NM_005845.4:c.1776T>G	NP_005836.2:p.His592Gln
XM_005254025.2:c.1647T>G	XP_005254082.1:p.His549Gln
XM_006719914.1:c.1686T>G	XP_006719977.1:p.His562Gln
XM_011521047.1:c.1227T>G	XP_011519349.1:p.His409Gln
XM_017020319.1:c.1647T>G	XP_016875808.1:p.His549Gln
XM_017020320.2:c.1776T>G	XP_016875809.1:p.His592Gln
XM_017020321.1:c.261T>G	XP_016875810.1:p.His87Gln
XM_017020322.1:c.1647T>G	XP_016875811.1:p.His549Gln
NM_001105515.3:c.1776T>G	NP_001098985.1:p.His592Gln
NM_001301829.2:c.1776T>G	NP_001288758.1:p.His592Gln
NM_001301830.2:c.1551T>G	NP_001288759.1:p.His517Gln
NM_005845.5:c.1776T>G MANE Select	NP_005836.2:p.His592Gln